A Novel, Homozygous c.1502T>G (p.Val501Gly) Mutation in the Thyroid peroxidase Gene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter

Congenital hypothyroidism (CH) with multinodular goiter (MNG) is uncommonly seen in children. However, CH associated with goiter is often caused by defective Thyroid peroxidase (TPO) gene. In this study, we screened for mutation(s) in the TPO gene in two siblings with CH and MNG and their healthy fa...

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Detalles Bibliográficos
Autores principales: Lee, Ching Chin, Harun, Fatimah, Jalaludin, Muhammad Yazid, Heh, Choon Han, Othman, Rozana, Mat Junit, Sarni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657457/
https://www.ncbi.nlm.nih.gov/pubmed/23737781
http://dx.doi.org/10.1155/2013/987186

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657457/
https://www.ncbi.nlm.nih.gov/pubmed/23737781
http://dx.doi.org/10.1155/2013/987186

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